ClinVar Miner

List of variants in gene HSPB1 reported as likely benign for Charcot-Marie-Tooth disease

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Total variants: 13
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HGVS dbSNP
NM_001540.5(HSPB1):c.*20A>C
NM_001540.5(HSPB1):c.-19C>T rs199602956
NM_001540.5(HSPB1):c.-5C>T
NM_001540.5(HSPB1):c.110G>C (p.Arg37Pro)
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001540.5(HSPB1):c.364+9_364+20del
NM_001540.5(HSPB1):c.365-5dup
NM_001540.5(HSPB1):c.365-7C>G rs201897299
NM_001540.5(HSPB1):c.428+13G>T
NM_001540.5(HSPB1):c.567C>T (p.Ala189=) rs528301561
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767

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